@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_head { this: np:hasAssertion dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_assertion; np:hasProvenance dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_provenance; np:hasPublicationInfo dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_publicationInfo; a np:Nanopublication . dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_assertion a np:Assertion . dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_provenance a np:Provenance . dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_publicationInfo a np:PublicationInfo . } dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_assertion { miriam-gene:7173 a ncit:C16612 . lld:C0010308 a ncit:C7057 . dgn-gda:DGNeda4c9bf7d11a969e2fe9c78afaf7126 sio:SIO_000628 miriam-gene:7173, lld:C0010308; a sio:SIO_001121 . } dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_provenance { dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_assertion dcterms:description "[The objective of this study was to screen and subsequently identify TPO gene mutations in patients with congenital hypothyroidism with evidence of total iodine organification defects (TIOD) or partial iodine organification defect (PIOD) as defined by the perchlorate discharge test.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:14751036; prov:wasDerivedFrom dgn-void:ctd_human-20150221; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20150221 pav:importedOn "2015-02-21"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP33249.RAaIpCcXAMBw8pEwuuf87kHQV_srsdt98zwss4joMrjyI130_publicationInfo { this: dcterms:created "2015-08-25T14:37:58+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }